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Congenital Anomalies of the Kidneys, Collecting System, Bladder, and Urethra

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Congenital Anomalies of the Kidneys, Collecting System, Bladder, and Urethra Congenital Anomalies of the Kidneys, Collecting System, Bladder, and Urethra Halima S. Janjua, MD,* Suet Kam Lam, MD, MPH, MS,† Vedant Gupta, DO,‡ Sangeeta Krishna, MD† *Center for Pediatric Nephrology, †Department of Pediatric Hospital Medicine, ‡Department of Pediatrics, Cleveland Clinic Children’s, Cleveland, OH Education Gap Several congenital anomalies of the kidney and urinary tract are incidental findings. An understanding of when to suspect and how to diagnose, manage, and use timely and appropriate investigations and consults is necessary. Objectives After completing this article, readers should be able to: 1. Develop an awareness of various congenital anomalies of the renal system, including embryology, prevalence, and risk factors. 2. Describe the clinical presentation and management of renal and urinary tract anomalies, including which anomalies warrant further evaluation and the timing and utility of imaging modalities. 3. Develop an awareness of genetic syndromes affecting the kidneys and urinary tract with associated extrarenal manifestations. INTRODUCTION Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide spectrum of anomalies, with a reported incidence of up to 2% of births. (1) CAKUT account for almost one-fourth of all birth defects. (2) These are major AUTHOR DISCLOSURE Drs Janjua, Lam, Gupta, and Krishna have disclosed no causes of kidney disease in children and account for more than 40% of end-stage financial relationships relevant to this article. renal disease (ESRD). CAKUT are usually detected by routine prenatal ultraso- This commentary does not contain a nography, although some cases are not diagnosed until adulthood. (3) discussion of an unapproved/investigative When renal disease is suspected, a complete physical examination should be use of a commercial product/device. performed with particular focus on accurate blood pressure measurement; the abdomen ABBREVIATIONS for palpable kidneys and a distended bladder; the genitalia for the position of the meatus, ARPKD autosomal recessive polycystic penile abnormalities, and urine flow; and the back for signs of neural tube defects. kidney disease Genetics play a major role in the etiology of CAKUT as family history is CAKUT congenital anomalies of the kidney identified in 10% to 50% of affected children (Table). (4)(5) Similarly, 23% of asymp- and urinary tract fi ESRD end-stage renal disease tomatic rst-degree relatives are found to be affected on screening. (4) Many MCDK multicystic dysplastic kidney environmental factors, such as maternal medication exposure, folate and iron PUV posterior urethral valve deficiency, and diabetes mellitus, also contribute to the expression of CAKUT. RBUS renal and bladder ultrasonography UPJ ureteropelvic junction UTI urinary tract infection PATHOGENESIS UVJ ureterovesical junction VCUG voiding cystourethrogram Human kidneys develop in 3 stages: the pronephros, the mesonephros, and the VUR vesicoureteral reflux metanephros. The pronephros and the mesonephros involute, and the metanephros Vol. 40 No. 12 DECEMBER 2019 619 forms the kidney starting at the fifth week of embryogenesis. The with urinary tract anomalies, such as horseshoe kidney, kidneys lie in the pelvis initially, where they are adjacent to each ureteral duplication, hydroureter, ureteropelvic junction other and facing ventrally. By the eighth week of embryogenesis, (UPJ) and ureterovesical junction (UVJ) obstruction, and the kidneys migrate to their permanent location in the lumbar vesicoureteral reflux (VUR). (13) Although renal and bladder region, and by the tenth week, they start producing urine. At the ultrasonography (RBUS) can capture a small hyperechoic time of birth, each healthy kidney measures approximately 4.0 kidney, histologic analysis can show undifferentiated tissue, to4.5cminthelongestdimension.Withtheco-expressionof nephron cell structure, and the presence of cartilage and multiple signaling and transcription factors, there are reciprocal cysts. Unilateral dysplasia has a good prognosis, barring the interactions between the metanephros and ureteric epithelium, severity of comorbidities of concomitant anomalies. How- resulting in the formation of nephrons and the collecting system. ever, unilateral renal dysplasia also may lead to death due to In the meantime, the bladder develops from the urogenital the Potter sequence or chronic kidney disease. sinus. Malfunctioning of otherwise well-controlled signaling pathways and transcription factors can result in CAKUT. (6) Multicystic Dysplastic Kidney The most common cause of a congenital solitary kidney is unilateral multicystic dysplastic kidney (MCDK). The prevalence ANOMALIES OF THE KIDNEY of MCDK is 1 in 2,400 to 1 in 4,300 live births, and it disproportionately affects males and the left side. (14) Most Renal Agenesis MCDKs involute without intervention (60% by age 10 years) Renal agenesis or aplasia is a missing kidney, with the and have minimal functional nephrons or renal tissue. (15) Most former a result of embryologic lack of initiation of devel- cases of MCDK are detected prenatally via ultrasonography, and opment and the latter of failure to progress after initial they are the second most common cause of newborn abdominal induction and subsequent involution. The incidence of masses, with hydronephrosis being the first. There are many unilateral renal agenesis is 1 in 1,000 to 1 in 3,000 live isolated cysts of differing sizes with dysplastic stroma associated births, with males and the left side disproportionately with an atretic ureter on gross examination. The contralateral affected. (7)(8) Diagnosis is usually made on routine pre- kidney may be affected by low-grade VUR in 15% to 28% of natal ultrasonography without obvious physical examina- patients or by UPJ obstruction in 4% of patients. (15)(16) Serial tion signs or symptoms, although there is a 50% rate of postnatal RBUS is warranted to monitor for contralateral renal coexisting urogenital abnormalities. During fetal develop- abnormalities, growth, and involution. If involution occurs, ment, the contralateral kidney undergoes hypertrophy as a further RBUS is not necessary. Malignant transformation compensatory response to the effects of a decreased neph- (Wilms tumor or renal cell carcinoma) is rare; therefore, ron count. The single hypertrophied kidney hyperfiltrates nephrectomy of MCDK is no longer the treatment of choice. and develops renal injury marked by hypertension, pro- (14) Conservative management with regular screening for hyper- teinuria, and reduced glomerular filtration rate. (9) Hence, tension and proteinuria is needed in patients with MCDK. serial ultrasonography and routine screening for hyperten- sion and proteinuria into adulthood are warranted. In a Autosomal Recessive Polycystic Kidney Disease study, the median age at renal injury was 14.8 years in a Autosomal recessive polycystic kidney disease (ARPKD) is cohort of 151 pediatric patients with a solitary functioning an inheritable genetic disorder with an incidence of 1 in kidney. (10) Bilateral agenesis has a male predominance and 10,000 to 1 in 40,000 live births. (17) Although ARPKD can is rare, occurring in 1 in 7,000 to 1 in 10,000 births. (11) present later in life, it is typically thought of as an “infantile” Those affected generally do not survive after birth because disease. Prenatal ultrasonography shows bilateral en- oligohydramnios leads to the Potter sequence, with multiple larged hyperechoic kidneys and possibly oligohydramnios. anomalies of the lung, limb, and face. Although 30% of newborns with ARPKD die after birth, postinfancy survival is 80% at 10 years. (17) Most infants Renal Dysplasia develop difficult to control hypertension, and 20% to 45% A dysplastic kidney occurs due to abnormal differentiation have ESRD by age 15 years. (18) On examination at birth, after initiation of normal development and is one of the most patients have bilateral firm abdominal masses and possibly common causes of pediatric ESRD. Prevalence ranges from respiratory distress. Laboratory work will show increasing 0.1% on ultrasonography screening to 4% in infant autopsies. blood urea nitrogen and serum creatinine levels, indicative (12) Unilateral dysplasia is more common than bilateral of renal insufficiency. The bilateral renal cystic disease and dysplasia, and as many as 50% to 75% of cases are associated associated hepatic fibrosis lead to renal and hepatic 620 Pediatrics in Review insufficiency. Although renal impairment can be variable, on the lower abdomen for a distended bladder, genitalia for all patients have hepatic fibrosis. penile abnormalities and urine flow, and the back for signs of Diagnosis is made by imaging and the infant having at neural tube defects, which may be associated with a neurogenic least 1 of the following: both parents without renal cysts, a bladder. (21) Blood work assessing kidney function is generally sibling with ARPKD, consanguineous parents, or hepatic withheld, except in bilateral hydronephrosis and severe cases. fibrosis. Management of the infant may include respiratory RBUS is useful in determining the severity of hydro- support, hypertension control, or fluid and electrolyte sup- nephrosis, for which multiple classification systems exist. port. Nephrectomy may be an option if the enlargement is The urinary tract dilation classification system is widely severe enough to affect respiratory or digestive function. As used, which includes parameters on anteroposterior renal the patient grows older, dialysis for advanced
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